𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Expanded mutational spectrum of theGLI3gene substantiates genotype–phenotype correlations

✍ Scribed by Aleksander Jamsheer, Anna Sowińska, Tomasz Trzeciak, Małgorzata Jamsheer-Bratkowska, Anita Geppert, Anna Latos-Bieleńska

Book ID
118303388
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
253 KB
Volume
53
Category
Article
ISSN
1234-1983

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational spectrum and genotype–phenoty
Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency
✍ Saskia H.L. Mandey; Marit S. Schneiders; Janet Koster; Hans R. Waterham 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB

## Communicated by Johannes Zschocke Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fe

Spectrum of HLXB9 gene mutations in Curr
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation
✍ C. Crétolle; A. Pelet; D. Sanlaville; M. Zérah; J. Amiel; F. Jaubert; Y. Révillo 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 311 KB

## Communicated by Sergio Ottolenghi Currarino syndrome (CS) is a rare congenital malformation described in 1981 as the association of three main features: typical sacral malformation (sickle-shaped sacrum or total sacral agenesis below S2), hindgut anomaly, and presacral tumor. In addition to the